title: hzAnalyzer: detection, quantification, and visualization of contiguous homozygosity in high-density genotyping datasets.
abstract: The analysis of contiguous homozygosity (runs of homozygous loci) in human genotyping datasets is critical in the search for causal disease variants in monogenic disorders, studies of population history and the identification of targets of natural selection. Here, we report methods for extracting homozygous segments from high-density genotyping datasets, quantifying their local genomic structure, identifying outstanding regions within the genome and visualizing results for comparative analysis between population samples.
authors.affiliation: Laboratory for Medical Informatics, Center for Genomic Medicine, RIKEN Yokohama Institute, Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa-ken, 230-0045, Japan.
authors.forename: Todd A
authors.initials: TA
authors.lastname: Johnson
authors.forename: Yoshihito
authors.initials: Y
authors.lastname: Niimura
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Tanaka
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Nakamura
authors.forename: Tatsuhiko
authors.initials: T
authors.lastname: Tsunoda
mesh_terms: D002877:Chromosomes, Human; D019295:Computational Biology; D015894:Genome, Human; D023281:Genomics; D060005:Genotyping Techniques; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D058977:Molecular Sequence Annotation; D020641:Polymorphism, Single Nucleotide; D015203:Reproducibility of Results; D012984:Software; D057188:Workflow